title: Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6.
abstract: Cockayne syndrome is a rare multi-systemic autosomal recessive condition characterized by variable post natal growth failure, neurological impairment, feeding difficulty, and progressive skin, ophthalmological, auditory and dental abnormalities. Life-span is usually shortened and death occurs in childhood or adolescence in the majority of cases. Only 3 cases of chromosomal aberrations as a cause of CS have been previously reported. We report a patient with a clinical phenotype of severe infantile CS who has a paternally inherited 5 Mb deletion of 10q11.2 resulting in loss of one allele and a previously unreported frameshift mutation of ERCC6 on the maternal allele.
authors.affiliation: Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON M5G 1X8, Canada. Shailly.jain@sickkids.ca
authors.forename: Shailly Jain
authors.initials: SJ
authors.lastname: Ghai
authors.forename: Mary
authors.initials: M
authors.lastname: Shago
authors.forename: Manohar
authors.initials: M
authors.lastname: Shroff
authors.forename: Grace
authors.initials: G
authors.lastname: Yoon
mesh_terms: D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D003057:Cockayne Syndrome / Q000235:genetics* / Q000473:pathology; D004265:DNA Helicases / Q000235:genetics*; D004252:DNA Mutational Analysis; D045643:DNA Repair Enzymes / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D000075223:Poly-ADP-Ribose Binding Proteins
chemical_list: D000075223:Poly-ADP-Ribose Binding Proteins; D004265:DNA Helicases; C078673:ERCC6 protein, human; D045643:DNA Repair Enzymes